Mutagenetix > Incidental Mutations

Incidental Mutation 'R0016:BC067074'

32717

Institutional Source

Beutler Lab

Gene Symbol

BC067074

Ensembl Gene

ENSMUSG00000021763

Gene Name

cDNA sequence BC067074

Synonyms

MMRRC Submission

038311-MU

Accession Numbers

Ncbi RefSeq: none; VEGA: OTTMUST00000084794; MGI:3040697

Is this an essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R0016 (G1)

Quality Score

195

Status

Validated (trace)

Chromosome

Chromosomal Location

113293159-113379711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113366105 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 115 (Y115H)

Ref Sequence

ENSEMBL: ENSMUSP00000077297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078163] [ENSMUST00000136755]

Predicted Effect

probably damaging
Transcript: ENSMUST00000078163
AA Change: Y115H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077297
Gene: ENSMUSG00000021763
AA Change: Y115H

Domain	Start	End	E-Value	Type
Pfam:Cadherin_3	29	136	4.6e-12	PFAM
low complexity region	190	198	N/A	INTRINSIC
Pfam:Cadherin_3	231	384	4.9e-38	PFAM
transmembrane domain	725	747	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000135096
AA Change: Y62H

SMART Domains

Protein: ENSMUSP00000131959
Gene: ENSMUSG00000021763
AA Change: Y62H

Domain	Start	End	E-Value	Type
Pfam:Cadherin_3	1	86	1.1e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000136755
AA Change: Y1657H

SMART Domains

Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: Y1657H

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LamG	44	177	1.28e-20	SMART
LamG	229	371	4.66e-14	SMART
low complexity region	407	420	N/A	INTRINSIC
Pfam:Cadherin_3	492	644	2.1e-35	PFAM
Pfam:Cadherin_3	647	759	1e-7	PFAM
Pfam:Cadherin_3	741	873	1.2e-8	PFAM
Pfam:Cadherin_3	861	989	4.1e-14	PFAM
Pfam:Cadherin_3	958	1114	1.2e-20	PFAM
Pfam:Cadherin_3	1117	1223	1.6e-10	PFAM
Pfam:Cadherin_3	1212	1341	5.6e-12	PFAM
Pfam:Cadherin_3	1347	1438	3.8e-8	PFAM
Pfam:Cadherin_3	1419	1562	2.3e-45	PFAM
Pfam:Cadherin_3	1576	1679	2.1e-9	PFAM
low complexity region	1732	1740	N/A	INTRINSIC
Pfam:Cadherin_3	1773	1926	3e-35	PFAM
transmembrane domain	2267	2289	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (58/58)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,294,800	V1181G	probably benign	Het
Adamts12	A	T	15: 11,217,829	I291F	probably damaging	Het
Aspm	G	C	1: 139,479,544	Q2056H	probably benign	Het
C7	A	T	15: 5,046,924	V122E	probably benign	Het
Casp12	A	T	9: 5,352,844	Q152L	probably null	Het
Cdh16	T	A	8: 104,617,632	T92S	probably benign	Het
Chrd	G	C	16: 20,734,308	V162L	possibly damaging	Het
Cpne8	A	G	15: 90,501,405		probably benign	Het
Cyp2j7	T	A	4: 96,202,147	I347F	probably damaging	Het
Cyp4a10	A	T	4: 115,521,107	Q130L	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Dgkd	T	C	1: 87,917,952	S294P	probably benign	Het
Dnah8	A	G	17: 30,663,316	I621V	probably benign	Het
Dync2h1	A	G	9: 7,144,346		probably benign	Het
Echdc1	A	T	10: 29,322,421		probably benign	Het
Elovl3	T	A	19: 46,132,158	F30Y	probably damaging	Het
Fa2h	T	C	8: 111,393,514	Y80C	probably damaging	Het
Fam208b	A	C	13: 3,585,170		probably null	Het
Fgd3	C	T	13: 49,296,609	D55N	probably benign	Het
Fhod1	T	C	8: 105,331,655	E823G	possibly damaging	Het
Gapvd1	A	G	2: 34,699,913		probably benign	Het
Gm17067	A	T	7: 42,708,622	I152K	probably benign	Het
Gm1966	G	A	7: 106,603,246	L264F	probably benign	Het
Gm9833	A	T	3: 10,089,319	M383L	possibly damaging	Het
Kif27	A	G	13: 58,354,714	V50A	probably damaging	Het
Kpna2	T	C	11: 106,991,086	T305A	probably benign	Het
Krtap22-2	A	G	16: 89,010,519		probably benign	Het
Lrp2bp	T	A	8: 46,012,031	F62L	probably damaging	Het
Marf1	G	A	16: 14,152,265	H197Y	probably damaging	Het
Mob3b	A	G	4: 35,083,947	F81L	probably benign	Het
Mon2	C	T	10: 123,035,546	V389M	probably damaging	Het
Myh8	A	G	11: 67,298,525	K1176E	probably damaging	Het
Naf1	T	C	8: 66,889,055		probably benign	Het
Nckap1l	A	G	15: 103,475,636	T554A	probably benign	Het
Oog3	A	G	4: 144,158,071	Y432H	probably damaging	Het
Paxbp1	A	T	16: 91,036,036		probably benign	Het
Phf20	A	T	2: 156,267,194	K154*	probably null	Het
Plekhj1	T	C	10: 80,796,416	D74G	possibly damaging	Het
Plpp4	T	C	7: 129,323,424	C128R	probably damaging	Het
Rcan3	A	T	4: 135,418,378		probably null	Het
Sh3rf1	T	A	8: 61,374,138	M642K	probably benign	Het
Slc7a1	A	G	5: 148,334,583	V522A	probably benign	Het
Sorbs1	A	G	19: 40,314,738		probably benign	Het
Spry2	C	T	14: 105,893,297	V152M	probably benign	Het
Srgap2	A	G	1: 131,349,462	M349T	possibly damaging	Het
Stag3	A	G	5: 138,291,381	H271R	possibly damaging	Het
Stat4	T	C	1: 52,068,780	V136A	probably benign	Het
Stc2	A	T	11: 31,360,177	D286E	probably benign	Het
Stk31	T	C	6: 49,437,377	Y482H	probably damaging	Het
Ticrr	C	T	7: 79,693,792	P1135L	probably benign	Het
Tmem55b	C	T	14: 50,928,894	R213Q	probably damaging	Het
Trim27	A	T	13: 21,191,229	E310V	probably benign	Het
Uvrag	T	C	7: 98,991,981	K284R	probably benign	Het
Vmn1r78	A	C	7: 12,153,352	S297R	probably benign	Het
Xylt2	A	G	11: 94,669,640	S270P	probably damaging	Het
Zfhx3	T	C	8: 108,950,178	M2620T	probably benign	Het
Zkscan2	C	A	7: 123,499,996		probably benign	Het
Zwint	T	C	10: 72,657,198		probably benign	Het

Other mutations in BC067074

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01723:BC067074	APN	13	113367557	missense	possibly damaging	0.91
IGL03023:BC067074	APN	13	113351741	missense	probably benign	0.03
cumpleanos	UTSW	13	113368336	missense	possibly damaging	0.87
Sorpresa	UTSW	13	113318191	missense	probably damaging	1.00
P0018:BC067074	UTSW	13	113367506	missense	possibly damaging	0.60
R0003:BC067074	UTSW	13	113368776	missense	probably benign	0.00
R0016:BC067074	UTSW	13	113366105	missense	probably damaging	1.00
R0053:BC067074	UTSW	13	113368489	missense	probably benign	0.00
R0053:BC067074	UTSW	13	113368489	missense	probably benign	0.00
R0158:BC067074	UTSW	13	113369153	nonsense	probably null
R0281:BC067074	UTSW	13	113369143	missense	probably damaging	1.00
R1212:BC067074	UTSW	13	113369417	intron	probably benign
R1300:BC067074	UTSW	13	113366160	missense	probably damaging	1.00
R1434:BC067074	UTSW	13	113368492	missense	possibly damaging	0.46
R1509:BC067074	UTSW	13	113368256	missense	probably damaging	0.99
R1738:BC067074	UTSW	13	113367500	missense	possibly damaging	0.69
R1758:BC067074	UTSW	13	113368732	missense	possibly damaging	0.78
R1828:BC067074	UTSW	13	113368808	missense	probably damaging	1.00
R2061:BC067074	UTSW	13	113318094	missense	probably damaging	0.99
R2570:BC067074	UTSW	13	113318587	missense	probably benign	0.34
R2884:BC067074	UTSW	13	113320682	missense	probably damaging	1.00
R2884:BC067074	UTSW	13	113369191	missense	probably benign	0.00
R3004:BC067074	UTSW	13	113366154	missense	probably damaging	1.00
R3150:BC067074	UTSW	13	113351760	missense	probably damaging	1.00
R3773:BC067074	UTSW	13	113318209	missense	probably benign	0.12
R3864:BC067074	UTSW	13	113322951	missense	possibly damaging	0.64
R3971:BC067074	UTSW	13	113317126	missense	probably damaging	1.00
R4004:BC067074	UTSW	13	113318380	missense	probably benign	0.00
R4271:BC067074	UTSW	13	113342370	missense	possibly damaging	0.76
R4382:BC067074	UTSW	13	113322754	missense	probably benign	0.10
R4484:BC067074	UTSW	13	113319199	missense	probably damaging	0.98
R4570:BC067074	UTSW	13	113318191	missense	probably damaging	1.00
R4600:BC067074	UTSW	13	113319249	missense	possibly damaging	0.95
R4622:BC067074	UTSW	13	113320081	missense	probably benign	0.00
R4676:BC067074	UTSW	13	113368807	missense	probably damaging	0.98
R4676:BC067074	UTSW	13	113368808	missense	probably damaging	1.00
R4677:BC067074	UTSW	13	113379486	missense	unknown
R4775:BC067074	UTSW	13	113317695	missense	possibly damaging	0.91
R4779:BC067074	UTSW	13	113368336	missense	possibly damaging	0.87
R4780:BC067074	UTSW	13	113317858	missense	probably damaging	1.00
R4829:BC067074	UTSW	13	113368162	missense	probably benign	0.05
R4841:BC067074	UTSW	13	113366190	missense	probably benign	0.00
R4879:BC067074	UTSW	13	113319787	missense	probably benign	0.03
R4930:BC067074	UTSW	13	113327662	missense	probably damaging	1.00
R4934:BC067074	UTSW	13	113368348	missense	probably damaging	1.00
R4987:BC067074	UTSW	13	113318101	missense	probably benign	0.07
R5065:BC067074	UTSW	13	113320919	missense	probably benign	0.01
R5216:BC067074	UTSW	13	113342413	missense	probably benign	0.20
R5236:BC067074	UTSW	13	113366220	missense	probably benign	0.14
R5247:BC067074	UTSW	13	113319459	missense	probably damaging	1.00
R5250:BC067074	UTSW	13	113319771	missense	possibly damaging	0.95
R5337:BC067074	UTSW	13	113318765	missense	probably damaging	1.00
R5342:BC067074	UTSW	13	113366269	critical splice donor site	probably null
R5426:BC067074	UTSW	13	113369053	missense	probably benign	0.01
R5472:BC067074	UTSW	13	113319169	missense	probably benign	0.12
R5526:BC067074	UTSW	13	113367893	missense	probably benign	0.22
R5543:BC067074	UTSW	13	113320873	missense	probably damaging	0.96
R5589:BC067074	UTSW	13	113317950	missense	possibly damaging	0.95
R5623:BC067074	UTSW	13	113346634	missense	possibly damaging	0.95
R5668:BC067074	UTSW	13	113317167	missense	possibly damaging	0.55
R5793:BC067074	UTSW	13	113321022	missense	possibly damaging	0.75
R5824:BC067074	UTSW	13	113368620	missense	probably damaging	1.00
R6038:BC067074	UTSW	13	113318619	missense	possibly damaging	0.49
R6038:BC067074	UTSW	13	113318619	missense	possibly damaging	0.49
R6053:BC067074	UTSW	13	113320726	missense	possibly damaging	0.51
R6125:BC067074	UTSW	13	113317683	missense	probably benign	0.00
R6129:BC067074	UTSW	13	113368806	nonsense	probably null
R6290:BC067074	UTSW	13	113319958	missense	probably damaging	0.97
R6291:BC067074	UTSW	13	113320447	missense	possibly damaging	0.85
R6302:BC067074	UTSW	13	113368112	missense	probably damaging	1.00
R6317:BC067074	UTSW	13	113368268	missense	probably benign	0.09
R6395:BC067074	UTSW	13	113369469	missense	probably damaging	1.00
R6673:BC067074	UTSW	13	113367832	nonsense	probably null
R6783:BC067074	UTSW	13	113320209	nonsense	probably null
R6800:BC067074	UTSW	13	113368152	missense	probably benign	0.02
R6857:BC067074	UTSW	13	113319958	missense	probably damaging	0.97
R6889:BC067074	UTSW	13	113318378	missense	probably damaging	0.99
R6934:BC067074	UTSW	13	113369266	missense	probably benign
R7019:BC067074	UTSW	13	113351750	missense	probably benign	0.01
R7100:BC067074	UTSW	13	113318967	missense
R7115:BC067074	UTSW	13	113320776	missense
R7152:BC067074	UTSW	13	113318850	missense
R7195:BC067074	UTSW	13	113367929	missense
R7213:BC067074	UTSW	13	113317941	missense
R7250:BC067074	UTSW	13	113318815	missense
R7341:BC067074	UTSW	13	113318172	missense
R7358:BC067074	UTSW	13	113319967	missense
R7359:BC067074	UTSW	13	113342430	missense
R7396:BC067074	UTSW	13	113318990	missense
R7632:BC067074	UTSW	13	113320886	missense
R7689:BC067074	UTSW	13	113379414	missense
R7713:BC067074	UTSW	13	113346541	missense
R7892:BC067074	UTSW	13	113319606	missense
R7975:BC067074	UTSW	13	113319606	missense
R8019:BC067074	UTSW	13	113319623	missense
R8034:BC067074	UTSW	13	113342511	missense

Predicted Primers

PCR Primer
(F):5'- GAGTCAACGGGCTTCTCTCTGATG -3'
(R):5'- TGGCAGTACCTGTATTTGCACGC -3'

Sequencing Primer
(F):5'- ATACGATCTCCTTGCTGTGAAGAG -3'
(R):5'- TGTATTTGCACGCAGCCG -3'

Posted On

2013-05-09